Tag: Phelan-McDermid Syndrome

My son Miles was diagnosed with a rare chromosome abnormality, Phelan McDermid Syndrome (22q13 deletion), at a month old while still in the NICU. At birth, he had extremely low tone, seizures, required oxygen as well as “physical abnormalities”.

After a long two months in the hospital, my son took his first breaths of outside air. And the incredible journey began.

I was shocked at how little was known about my sons diagnosis. The doctors had given me a paragraph printout from the internet and basically said that’s all they knew. The unknown. Most diagnosed will never (or regress and lose) any functional language. Lots have extremely low tone, sometimes with therapy it will improve, other cases it doesn’t. Developmental delays are also very common.

Each child/adult diagnosed with Phelan McDermid Syndrome is unique. With their own special set of strengths and challenges. I am still learning what this means for my beautiful baby boy. He has exceeded some of the expectations I had at diagnosis but is still “showing” me what this life holds for us.

Some of my favorite characteristics about Miles are… He’s funny! Motivated. Curious. Musically talented. And all around a happy boy. He’s absolutely perfect (and by textbook, rare)!

How We Manage Rare Disease:

First and foremost with love, understanding and patience. Rare disease does not define my son.

We see just shy of a dozen specialists at our local children’s hospital. My son has also received early intervention services since he was released from the hospital at two months old. We implement his therapies at home and in the community.

Another big part of managing Phelan McDermid Syndrome is education and research. Educating myself on possible medical issues related to the syndrome. Strategies to minimize deficits. And participating in research to help the better understanding of the syndrome, thus giving my son and other children like him a chance for a better life.

Resources We Find Helpful:

Mostly, the group of other parents and caregivers who have children with Phelan McDermid Syndrome, that I belong to. These amazing people live this life and speak honestly and from experience. They are some of the most incredible, genuine and knowledgeable people I’ve been blessed to have in my life.

Secondly, our therapists have really helped educate and support me through this journey. Not only do they provide a selfless service to my son, but to me also.

Lastly (but definitely not least), the state. State programs have enabled me to stay at home and care for my son (definitely not in luxury but we make it work, for now). Attend all of his doctor and therapy appointments. Enroll him in a preschool that specializes in kids with disabilities. And most importantly, provide insurance for him.